Full data view for gene FBXO22

Information The variants shown are described using the NM_147188.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.159_162del - - Both (homozygous) - VUS g.76196850_76196853del g.75904509_75904512del NM_012170.3:c.159_162del (Arg53SerfsTer13) - FBXO22_000001 reported as candidate disease gene PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 30BN13200 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG, SEQ-ON - WES, WGS ? Fam1PatII1/Pat1 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam2PatII3/Pat2 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam3PatII2/Pat3 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam4PatII2/Pat4 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 2 affected (female and fetus), unaffected heterozygous carrier parents F yes United Arab Emirates - - - - - 2 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam4PatII3/Pat5 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 fetus - yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam5PatII1/Pat6 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Oman - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam6PatII1/Pat7 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Oman - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam7PatII1/Pat8 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Oman - - - - - 2 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ, SEQ-NG, SEQ-ON - WES, WGS ? Fam7PatII3/Pat9 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 brother M yes - - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam8PatII1/Pat10 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Oman - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam11PatII2/Pat13 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-ON - WGS ? Fam12PatII4/Pat14 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.159_162del r.(159_162del) p.0 Both (homozygous) - pathogenic (recessive) g.76196850_76196853del g.75904509_75904512del 159_162delGGAG - FBXO22_000001 - PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 - - Germline - - - - - DNA SEQ-NG - WES ? Fam13PatII4/Pat15 PubMed: Ramakrishna 2025, Journal: Ramakrishna 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes United Arab Emirates - - - - - 1 Johan den Dunnen
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